Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919802_89920805del | CA916083514 | MC1R | c.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?]) c.544_*17del c.544_1098+68del | ClinVar |
16 | g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | CA2242009630 | MC1R | c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=]) c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | |
16 | g.89919803_89920802del | CA658798660 | MC1R | c.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8]) c.545_*14del c.545_1098+65del | ClinVar dbSNP |
16 | g.89920041C>A | CA497380308 | MC1R | c.783C>A (p.Leu261=) | |
16 | g.89920041C>G | CA497380309 | MC1R | c.783C>G (p.Leu261=) | |
16 | g.89920041C>T | CA497380310 | MC1R | c.783C>T (p.Leu261=) | |
16 | g.89920044_89920045del | CA2576104039 | MC1R | c.786_787del (p.Leu263HisfsTer?) | ClinVar dbSNP |
16 | g.89920042A>C | CA397463265 | MC1R | c.784A>C (p.Thr262Pro) | |
16 | g.89920042A>G | CA397463266 | MC1R | c.784A>G (p.Thr262Ala) | |
16 | g.89920042A>T | CA397463268 | MC1R | c.784A>T (p.Thr262Ser) | |
16 | g.89920043C>A | CA397463269 | MC1R | c.785C>A (p.Thr262Lys) | gnomAD v4 |
16 | g.89920043C>G | CA397463271 | MC1R | c.785C>G (p.Thr262Arg) | |
16 | g.89920043C>T | CA397463273 | MC1R | c.785C>T (p.Thr262Ile) | |
16 | g.89920044A= | CA2242009790 | MC1R | c.786A= (p.Thr262=) | |
16 | g.89920044A>C | CA497380317 | MC1R | c.786A>C (p.Thr262=) | |
16 | g.89920044A>G | CA497380318 | MC1R | c.786A>G (p.Thr262=) | ClinVar |
16 | g.89920044A>T | CA497380319 | MC1R | c.786A>T (p.Thr262=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920045C>A | CA397463274 | MC1R | c.787C>A (p.Leu263Ile) | |
16 | g.89920045C= | CA2242009791 | MC1R | c.787C= (p.Leu263=) | |
16 | g.89920045C>G | CA397463275 | MC1R | c.787C>G (p.Leu263Val) | ClinVar gnomAD v4 |
16 | g.89920045C>T | CA8255745 | MC1R | c.787C>T (p.Leu263Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920046T>A | CA397463278 | MC1R | c.788T>A (p.Leu263His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920046T>C | CA8255746 | MC1R | c.788T>C (p.Leu263Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920046T>G | CA397463279 | MC1R | c.788T>G (p.Leu263Arg) | |
16 | g.89920046T= | CA2242009792 | MC1R | c.788T= (p.Leu263=) | |
16 | g.89920047C>A | CA497380324 | MC1R | c.789C>A (p.Leu263=) | COSMIC |
16 | g.89920047C= | CA2242009793 | MC1R | c.789C= (p.Leu263=) | |
16 | g.89920047C>G | CA497380325 | MC1R | c.789C>G (p.Leu263=) | |
16 | g.89920047C>T | CA8255747 | MC1R | c.789C>T (p.Leu263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920048A= | CA2242009794 | MC1R | c.790A= (p.Ile264=) | |
16 | g.89920048A>C | CA397463281 | MC1R | c.790A>C (p.Ile264Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.89920048A>G | CA286607657 | MC1R | c.790A>G (p.Ile264Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920048A>T | CA397463283 | MC1R | c.790A>T (p.Ile264Phe) | |
16 | g.89920049T>A | CA397463285 | MC1R | c.791T>A (p.Ile264Asn) | dbSNP |
16 | g.89920049T>C | CA397463287 | MC1R | c.791T>C (p.Ile264Thr) | |
16 | g.89920049T>G | CA397463292 | MC1R | c.791T>G (p.Ile264Ser) | |
16 | g.89920049T= | CA2242009795 | MC1R | c.791T= (p.Ile264=) | |
16 | g.89920051_89920056del | CA2635067344 | MC1R | c.793_798del (p.Val265_Leu266del) | gnomAD v4 |
16 | g.89920050C>A | CA497380330 | MC1R | c.792C>A (p.Ile264=) | gnomAD v4 |
16 | g.89920050C= | CA2242009796 | MC1R | c.792C= (p.Ile264=) | |
16 | g.89920050C>G | CA397463296 | MC1R | c.792C>G (p.Ile264Met) | |
16 | g.89920050C>T | CA8255748 | MC1R | c.792C>T (p.Ile264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920051G>A | CA233348 | MC1R | c.793G>A (p.Val265Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920051G>C | CA397463299 | MC1R | c.793G>C (p.Val265Leu) | |
16 | g.89920051G= | CA2242009797 | MC1R | c.793G= (p.Val265=) | |
16 | g.89920051G>T | CA397463300 | MC1R | c.793G>T (p.Val265Phe) | |
16 | g.89920052T>A | CA397463301 | MC1R | c.794T>A (p.Val265Asp) | |
16 | g.89920052T>C | CA397463302 | MC1R | c.794T>C (p.Val265Ala) | |
16 | g.89920052T>G | CA397463303 | MC1R | c.794T>G (p.Val265Gly) | |
16 | g.89920053C>A | CA497380335 | MC1R | c.795C>A (p.Val265=) | |
16 | g.89920053C= | CA2242009798 | MC1R | c.795C= (p.Val265=) | |
16 | g.89920053C>G | CA8255750 | MC1R | c.795C>G (p.Val265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920053C>T | CA8255749 | MC1R | c.795C>T (p.Val265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920055_89920061del | CA2635067356 | MC1R | c.797_803del (p.Leu266ProfsTer?) | gnomAD v4 |
16 | g.89920054C>A | CA397463307 | MC1R | c.796C>A (p.Leu266Ile) | |
16 | g.89920054C= | CA2242009799 | MC1R | c.796C= (p.Leu266=) | |
16 | g.89920054C>G | CA397463308 | MC1R | c.796C>G (p.Leu266Val) | |
16 | g.89920054C>T | CA286607663 | MC1R | c.796C>T (p.Leu266Phe) | dbSNP gnomAD v4 |
16 | g.89920055T>A | CA397463309 | MC1R | c.797T>A (p.Leu266His) | |
16 | g.89920055T>C | CA397463310 | MC1R | c.797T>C (p.Leu266Pro) | |
16 | g.89920055T>G | CA397463311 | MC1R | c.797T>G (p.Leu266Arg) | |
16 | g.89920056C>A | CA497380342 | MC1R | c.798C>A (p.Leu266=) | |
16 | g.89920056C= | CA2242009800 | MC1R | c.798C= (p.Leu266=) | |
16 | g.89920056C>G | CA497380340 | MC1R | c.798C>G (p.Leu266=) | gnomAD v4 |
16 | g.89920056C>T | CA497380339 | MC1R | c.798C>T (p.Leu266=) | dbSNP |
16 | g.89920057T>A | CA397463313 | MC1R | c.799T>A (p.Cys267Ser) | |
16 | g.89920057T>C | CA397463315 | MC1R | c.799T>C (p.Cys267Arg) | gnomAD v4 |
16 | g.89920057T>G | CA397463317 | MC1R | c.799T>G (p.Cys267Gly) | |
16 | g.89920058G>A | CA397463318 | MC1R | c.800G>A (p.Cys267Tyr) | ClinVar |
16 | g.89920058G>C | CA397463320 | MC1R | c.800G>C (p.Cys267Ser) | |
16 | g.89920058G= | CA2242009801 | MC1R | c.800G= (p.Cys267=) | |
16 | g.89920058G>T | CA397463321 | MC1R | c.800G>T (p.Cys267Phe) | ClinVar dbSNP |
16 | g.89920059C>A | CA397463323 | MC1R | c.801C>A (p.Cys267Ter) | |
16 | g.89920059C= | CA2242009802 | MC1R | c.801C= (p.Cys267=) | |
16 | g.89920059C>G | CA397463325 | MC1R | c.801C>G (p.Cys267Trp) | |
16 | g.89920059C>T | CA497380349 | MC1R | c.801C>T (p.Cys267=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920060C>A | CA397463327 | MC1R | c.802C>A (p.Pro268Thr) | |
16 | g.89920060C>G | CA397463329 | MC1R | c.802C>G (p.Pro268Ala) | dbSNP gnomAD v4 |
16 | g.89920060C>T | CA397463326 | MC1R | c.802C>T (p.Pro268Ser) | |
16 | g.89920061C>A | CA397463330 | MC1R | c.803C>A (p.Pro268His) | |
16 | g.89920061C= | CA2242009803 | MC1R | c.803C= (p.Pro268=) | |
16 | g.89920061C>G | CA8255751 | MC1R | c.803C>G (p.Pro268Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920061C>T | CA8255752 | MC1R | c.803C>T (p.Pro268Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920062C>A | CA497380357 | MC1R | c.804C>A (p.Pro268=) | |
16 | g.89920062C= | CA2242009804 | MC1R | c.804C= (p.Pro268=) | |
16 | g.89920062C>G | CA497380359 | MC1R | c.804C>G (p.Pro268=) | gnomAD v4 |
16 | g.89920062C>T | CA8255753 | MC1R | c.804C>T (p.Pro268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920063G>A | CA8255754 | MC1R | c.805G>A (p.Glu269Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920063G>C | CA397463333 | MC1R | c.805G>C (p.Glu269Gln) | |
16 | g.89920063G= | CA2242009805 | MC1R | c.805G= (p.Glu269=) | |
16 | g.89920063G>T | CA397463334 | MC1R | c.805G>T (p.Glu269Ter) | |
16 | g.89920064A= | CA2242009806 | MC1R | c.806A= (p.Glu269=) | |
16 | g.89920064A>C | CA397463336 | MC1R | c.806A>C (p.Glu269Ala) | |
16 | g.89920064A>G | CA8255755 | MC1R | c.806A>G (p.Glu269Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920064A>T | CA397463339 | MC1R | c.806A>T (p.Glu269Val) | |
16 | g.89920065G>A | CA497380370 | MC1R | c.807G>A (p.Glu269=) | gnomAD v4 |
16 | g.89920065G>C | CA397463340 | MC1R | c.807G>C (p.Glu269Asp) | |
16 | g.89920065G>T | CA397463341 | MC1R | c.807G>T (p.Glu269Asp) | |
16 | g.89920066C>A | CA397463342 | MC1R | c.808C>A (p.His270Asn) | gnomAD v4 |
16 | g.89920066C>G | CA397463343 | MC1R | c.808C>G (p.His270Asp) | COSMIC |
16 | g.89920066C>T | CA397463345 | MC1R | c.808C>T (p.His270Tyr) | |
16 | g.89920067A>C | CA397463347 | MC1R | c.809A>C (p.His270Pro) | |
16 | g.89920067A>G | CA397463349 | MC1R | c.809A>G (p.His270Arg) | |
16 | g.89920067A>T | CA397463350 | MC1R | c.809A>T (p.His270Leu) | |
16 | g.89920067_89920068delinsAC | CA2242009807 | MC1R | c.809_810delinsAC (p.His270=) | |
16 | g.89920068C>A | CA397463351 | MC1R | c.810C>A (p.His270Gln) | |
16 | g.89920068C>G | CA397463352 | MC1R | c.810C>G (p.His270Gln) | |
16 | g.89920068C>T | CA497380385 | MC1R | c.810C>T (p.His270=) | |
16 | g.89920071del | CA2242009808 | MC1R | c.813del (p.Thr272ArgfsTer?) | ClinVar dbSNP |
16 | g.89920069C>A | CA397463353 | MC1R | c.811C>A (p.Pro271Thr) | |
16 | g.89920069C= | CA2242009809 | MC1R | c.811C= (p.Pro271=) | |
16 | g.89920069C>G | CA397463354 | MC1R | c.811C>G (p.Pro271Ala) | ClinVar |
16 | g.89920069C>T | CA397463355 | MC1R | c.811C>T (p.Pro271Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920070C>A | CA397463357 | MC1R | c.812C>A (p.Pro271His) | |
16 | g.89920070C>G | CA397463359 | MC1R | c.812C>G (p.Pro271Arg) | |
16 | g.89920070C>T | CA397463360 | MC1R | c.812C>T (p.Pro271Leu) | |
16 | g.89920070_89920082delinsCCACGTGCGGCTG | CA2242009810 | MC1R | c.812_824delinsCCACGTGCGGCTG (p.Pro271=) | |
16 | g.89920071C>A | CA8255757 | MC1R | c.813C>A (p.Pro271=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920071C= | CA2242009811 | MC1R | c.813C= (p.Pro271=) | |
16 | g.89920071C>G | CA497380398 | MC1R | c.813C>G (p.Pro271=) | dbSNP |
16 | g.89920071C>T | CA286607670 | MC1R | c.813C>T (p.Pro271=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920073_89920084del | CA8255756 | MC1R | c.815_826del (p.Thr272_Cys275del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920072A= | CA2242009812 | MC1R | c.814A= (p.Thr272=) | |
16 | g.89920072A>C | CA397463361 | MC1R | c.814A>C (p.Thr272Pro) | |
16 | g.89920072A>G | CA8255759 | MC1R | c.814A>G (p.Thr272Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920072A>T | CA397463362 | MC1R | c.814A>T (p.Thr272Ser) | |
16 | g.89920073C>A | CA8255761 | MC1R | c.815C>A (p.Thr272Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920073C= | CA2242009813 | MC1R | c.815C= (p.Thr272=) | |
16 | g.89920073C>G | CA397463364 | MC1R | c.815C>G (p.Thr272Arg) | |
16 | g.89920073C>T | CA8255760 | MC1R | c.815C>T (p.Thr272Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920073_89920075dup | CA8255758 | MC1R | c.815_817dup (p.Thr272_Cys273insSer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920074G>A | CA8255763 | MC1R | c.816G>A (p.Thr272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920074G>C | CA8255762 | MC1R | c.816G>C (p.Thr272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920074G= | CA2242009814 | MC1R | c.816G= (p.Thr272=) | |
16 | g.89920074G>T | CA497380419 | MC1R | c.816G>T (p.Thr272=) | dbSNP gnomAD v4 |
16 | g.89920075T>A | CA397463369 | MC1R | c.817T>A (p.Cys273Ser) | |
16 | g.89920075T>C | CA397463371 | MC1R | c.817T>C (p.Cys273Arg) | gnomAD v4 |
16 | g.89920075T>G | CA397463372 | MC1R | c.817T>G (p.Cys273Gly) | |
16 | g.89920076G>A | CA8255764 | MC1R | c.818G>A (p.Cys273Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920076G>C | CA397463374 | MC1R | c.818G>C (p.Cys273Ser) | |
16 | g.89920076G= | CA2242009815 | MC1R | c.818G= (p.Cys273=) | |
16 | g.89920076G>T | CA286607677 | MC1R | c.818G>T (p.Cys273Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920077C>A | CA397463375 | MC1R | c.819C>A (p.Cys273Ter) | gnomAD v4 |
16 | g.89920077C= | CA2242009816 | MC1R | c.819C= (p.Cys273=) | |
16 | g.89920077C>G | CA397463376 | MC1R | c.819C>G (p.Cys273Trp) | |
16 | g.89920077C>T | CA8255765 | MC1R | c.819C>T (p.Cys273=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920078G>A | CA8255766 | MC1R | c.820G>A (p.Gly274Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920078G>C | CA397463378 | MC1R | c.820G>C (p.Gly274Arg) | |
16 | g.89920078G= | CA2242009817 | MC1R | c.820G= (p.Gly274=) | |
16 | g.89920078G>T | CA397463379 | MC1R | c.820G>T (p.Gly274Cys) | |
16 | g.89920079G>A | CA397463380 | MC1R | c.821G>A (p.Gly274Asp) | |
16 | g.89920079G>C | CA397463383 | MC1R | c.821G>C (p.Gly274Ala) | dbSNP |
16 | g.89920079G= | CA2242009818 | MC1R | c.821G= (p.Gly274=) | |
16 | g.89920079G>T | CA397463381 | MC1R | c.821G>T (p.Gly274Val) | |
16 | g.89920080del | CA2635067412 | MC1R | c.822del (p.Cys275AlafsTer?) | gnomAD v4 |
16 | g.89920080C>A | CA497380434 | MC1R | c.822C>A (p.Gly274=) | |
16 | g.89920080C>G | CA497380436 | MC1R | c.822C>G (p.Gly274=) | |
16 | g.89920080C>T | CA497380438 | MC1R | c.822C>T (p.Gly274=) | |
16 | g.89920081T>A | CA397463385 | MC1R | c.823T>A (p.Cys275Ser) | |
16 | g.89920081T>C | CA397463386 | MC1R | c.823T>C (p.Cys275Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920081T>G | CA397463387 | MC1R | c.823T>G (p.Cys275Gly) | |
16 | g.89920081T= | CA2242009819 | MC1R | c.823T= (p.Cys275=) | |
16 | g.89920082G>A | CA397463389 | MC1R | c.824G>A (p.Cys275Tyr) | |
16 | g.89920082G>C | CA397463390 | MC1R | c.824G>C (p.Cys275Ser) | |
16 | g.89920082G>T | CA397463391 | MC1R | c.824G>T (p.Cys275Phe) | |
16 | g.89920083C>A | CA397463392 | MC1R | c.825C>A (p.Cys275Ter) | |
16 | g.89920083C>G | CA397463393 | MC1R | c.825C>G (p.Cys275Trp) | |
16 | g.89920083C>T | CA497380450 | MC1R | c.825C>T (p.Cys275=) | gnomAD v4 |
16 | g.89920084A>C | CA397463394 | MC1R | c.826A>C (p.Ile276Leu) | |
16 | g.89920084A>G | CA397463396 | MC1R | c.826A>G (p.Ile276Val) | |
16 | g.89920084A>T | CA397463397 | MC1R | c.826A>T (p.Ile276Phe) | |
16 | g.89920084_89920087delinsATCT | CA2242009820 | MC1R | c.826_829delinsATCT (p.Ile276=) | |
16 | g.89920085T>A | CA397463402 | MC1R | c.827T>A (p.Ile276Asn) | |
16 | g.89920085T>C | CA397463400 | MC1R | c.827T>C (p.Ile276Thr) | gnomAD v4 |
16 | g.89920085T>G | CA8255767 | MC1R | c.827T>G (p.Ile276Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920085T= | CA2242009822 | MC1R | c.827T= (p.Ile276=) | |
16 | g.89920087_89920089del | CA2242009821 | MC1R | c.829_831del (p.Phe277del) | dbSNP |
16 | g.89920086C>A | CA497380462 | MC1R | c.828C>A (p.Ile276=) | |
16 | g.89920086C= | CA2242009823 | MC1R | c.828C= (p.Ile276=) | |
16 | g.89920086C>G | CA397463404 | MC1R | c.828C>G (p.Ile276Met) | dbSNP |
16 | g.89920086C>T | CA497380463 | MC1R | c.828C>T (p.Ile276=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920087T>A | CA397463409 | MC1R | c.829T>A (p.Phe277Ile) | |
16 | g.89920087T>C | CA397463406 | MC1R | c.829T>C (p.Phe277Leu) | |
16 | g.89920087T>G | CA397463408 | MC1R | c.829T>G (p.Phe277Val) | gnomAD v4 |
16 | g.89920088T>A | CA397463411 | MC1R | c.830T>A (p.Phe277Tyr) | |
16 | g.89920088T>C | CA397463412 | MC1R | c.830T>C (p.Phe277Ser) | |
16 | g.89920088T>G | CA397463413 | MC1R | c.830T>G (p.Phe277Cys) | |
16 | g.89920089C>A | CA397463417 | MC1R | c.831C>A (p.Phe277Leu) | |
16 | g.89920089C= | CA2242009825 | MC1R | c.831C= (p.Phe277=) | |
16 | g.89920089C>G | CA8255768 | MC1R | c.831C>G (p.Phe277Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920089C>T | CA497380468 | MC1R | c.831C>T (p.Phe277=) | |
16 | g.89920089_89920090delinsCA | CA2242009824 | MC1R | c.831_832delinsCA (p.Phe277=) | |
16 | g.89920090A= | CA2242009826 | MC1R | c.832A= (p.Lys278=) | |
16 | g.89920090A>C | CA397463419 | MC1R | c.832A>C (p.Lys278Gln) | |
16 | g.89920090A>G | CA8255769 | MC1R | c.832A>G (p.Lys278Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920090A>T | CA397463420 | MC1R | c.832A>T (p.Lys278Ter) | |
16 | g.89920091del | CA624455324 | MC1R | c.833del (p.Lys278ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920091A>C | CA397463421 | MC1R | c.833A>C (p.Lys278Thr) | |
16 | g.89920091A>G | CA397463422 | MC1R | c.833A>G (p.Lys278Arg) | ClinVar |
16 | g.89920091A>T | CA397463423 | MC1R | c.833A>T (p.Lys278Met) | |
16 | g.89920092G>A | CA497380473 | MC1R | c.834G>A (p.Lys278=) | |
16 | g.89920092G>C | CA397463424 | MC1R | c.834G>C (p.Lys278Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920092G= | CA2242009827 | MC1R | c.834G= (p.Lys278=) | |
16 | g.89920092G>T | CA397463425 | MC1R | c.834G>T (p.Lys278Asn) | |
16 | g.89920093A= | CA2242009828 | MC1R | c.835A= (p.Asn279=) | |
16 | g.89920093A>C | CA397463427 | MC1R | c.835A>C (p.Asn279His) | |
16 | g.89920093A>G | CA8255770 | MC1R | c.835A>G (p.Asn279Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920093A>T | CA397463428 | MC1R | c.835A>T (p.Asn279Tyr) | |
16 | g.89920094A= | CA2242009829 | MC1R | c.836A= (p.Asn279=) | |
16 | g.89920094A>C | CA397463430 | MC1R | c.836A>C (p.Asn279Thr) | |
16 | g.89920094A>G | CA8255771 | MC1R | c.836A>G (p.Asn279Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920094A>T | CA397463432 | MC1R | c.836A>T (p.Asn279Ile) | gnomAD v4 |
16 | g.89920095C>A | CA8255772 | MC1R | c.837C>A (p.Asn279Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920095C= | CA2242009830 | MC1R | c.837C= (p.Asn279=) | |
16 | g.89920095C>G | CA397463434 | MC1R | c.837C>G (p.Asn279Lys) | |
16 | g.89920095C>T | CA497380481 | MC1R | c.837C>T (p.Asn279=) | |
16 | g.89920096T>A | CA397463436 | MC1R | c.838T>A (p.Phe280Ile) | |
16 | g.89920096T>C | CA397463437 | MC1R | c.838T>C (p.Phe280Leu) | COSMIC |
16 | g.89920096T>G | CA397463438 | MC1R | c.838T>G (p.Phe280Val) | gnomAD v4 |
16 | g.89920097T>A | CA397463442 | MC1R | c.839T>A (p.Phe280Tyr) | |
16 | g.89920097T>C | CA397463443 | MC1R | c.839T>C (p.Phe280Ser) | |
16 | g.89920097T>G | CA397463440 | MC1R | c.839T>G (p.Phe280Cys) | |
16 | g.89920097_89920098delinsTC | CA2242009831 | MC1R | c.839_840delinsTC (p.Phe280=) | |
16 | g.89920098del | CA980471590 | MC1R | c.840del (p.Phe280LeufsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920098C>A | CA397463444 | MC1R | c.840C>A (p.Phe280Leu) | ClinVar dbSNP |
16 | g.89920098C= | CA2242009832 | MC1R | c.840C= (p.Phe280=) | |
16 | g.89920098C>G | CA397463446 | MC1R | c.840C>G (p.Phe280Leu) | |
16 | g.89920098C>T | CA497380485 | MC1R | c.840C>T (p.Phe280=) | gnomAD v4 |
16 | g.89920099A= | CA2242009833 | MC1R | c.841A= (p.Asn281=) | |
16 | g.89920099A>C | CA397463448 | MC1R | c.841A>C (p.Asn281His) | |
16 | g.89920099A>G | CA397463450 | MC1R | c.841A>G (p.Asn281Asp) | |
16 | g.89920099A>T | CA397463451 | MC1R | c.841A>T (p.Asn281Tyr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920100A= | CA2242009834 | MC1R | c.842A= (p.Asn281=) | |
16 | g.89920100A>C | CA397463455 | MC1R | c.842A>C (p.Asn281Thr) | |
16 | g.89920100A>G | CA8255773 | MC1R | c.842A>G (p.Asn281Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920100A>T | CA397463453 | MC1R | c.842A>T (p.Asn281Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920101C>A | CA397463457 | MC1R | c.843C>A (p.Asn281Lys) | |
16 | g.89920101C= | CA2242009835 | MC1R | c.843C= (p.Asn281=) | |
16 | g.89920101C>G | CA397463464 | MC1R | c.843C>G (p.Asn281Lys) | |
16 | g.89920101C>T | CA8255774 | MC1R | c.843C>T (p.Asn281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920102C>A | CA397463469 | MC1R | c.844C>A (p.Leu282Ile) | |
16 | g.89920102C= | CA2242009836 | MC1R | c.844C= (p.Leu282=) | |
16 | g.89920102C>G | CA397463470 | MC1R | c.844C>G (p.Leu282Val) | |
16 | g.89920102C>T | CA397463475 | MC1R | c.844C>T (p.Leu282Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920103T>A | CA397463478 | MC1R | c.845T>A (p.Leu282His) | gnomAD v4 |
16 | g.89920103T>C | CA8255775 | MC1R | c.845T>C (p.Leu282Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920103T>G | CA397463480 | MC1R | c.845T>G (p.Leu282Arg) | |
16 | g.89920103T= | CA2242009837 | MC1R | c.845T= (p.Leu282=) | |
16 | g.89920104C>A | CA497380492 | MC1R | c.846C>A (p.Leu282=) | |
16 | g.89920104C>G | CA497380494 | MC1R | c.846C>G (p.Leu282=) | |
16 | g.89920104C>T | CA497380493 | MC1R | c.846C>T (p.Leu282=) | gnomAD v4 |
16 | g.89920105T>A | CA397463484 | MC1R | c.847T>A (p.Phe283Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920105T>C | CA286607688 | MC1R | c.847T>C (p.Phe283Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.89920105T>G | CA397463488 | MC1R | c.847T>G (p.Phe283Val) | |
16 | g.89920105T= | CA2242009838 | MC1R | c.847T= (p.Phe283=) | |
16 | g.89920106T>A | CA397463491 | MC1R | c.848T>A (p.Phe283Tyr) | |
16 | g.89920106T>C | CA397463492 | MC1R | c.848T>C (p.Phe283Ser) | |
16 | g.89920106T>G | CA397463496 | MC1R | c.848T>G (p.Phe283Cys) | |
16 | g.89920107T>A | CA397463498 | MC1R | c.849T>A (p.Phe283Leu) | |
16 | g.89920107T>C | CA497380501 | MC1R | c.849T>C (p.Phe283=) | |
16 | g.89920107T>G | CA397463500 | MC1R | c.849T>G (p.Phe283Leu) | |
16 | g.89920108C>A | CA397463501 | MC1R | c.850C>A (p.Leu284Ile) | |
16 | g.89920108C>G | CA397463503 | MC1R | c.850C>G (p.Leu284Val) | |
16 | g.89920108C>T | CA397463506 | MC1R | c.850C>T (p.Leu284Phe) | gnomAD v4 |
16 | g.89920109T>A | CA397463512 | MC1R | c.851T>A (p.Leu284His) | |
16 | g.89920109T>C | CA397463511 | MC1R | c.851T>C (p.Leu284Pro) | gnomAD v4 |
16 | g.89920109T>G | CA397463509 | MC1R | c.851T>G (p.Leu284Arg) | |
16 | g.89920110C>A | CA497380506 | MC1R | c.852C>A (p.Leu284=) | |
16 | g.89920110C= | CA2242009839 | MC1R | c.852C= (p.Leu284=) | |
16 | g.89920110C>G | CA497380508 | MC1R | c.852C>G (p.Leu284=) | |
16 | g.89920110C>T | CA8255776 | MC1R | c.852C>T (p.Leu284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920111G>A | CA286607691 | MC1R | c.853G>A (p.Ala285Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920111G>C | CA397463513 | MC1R | c.853G>C (p.Ala285Pro) | |
16 | g.89920111G= | CA2242009840 | MC1R | c.853G= (p.Ala285=) | |
16 | g.89920111G>T | CA397463514 | MC1R | c.853G>T (p.Ala285Ser) | |
16 | g.89920111_89920139delinsGCCCTCATCATCTGCAATGCCATCATCGA | CA2242009841 | MC1R | c.853_881delinsGCCCTCATCATCTGCAATGCCATCATCGA (p.Ala285=) | |
16 | g.89920112C>A | CA397463515 | MC1R | c.854C>A (p.Ala285Asp) | |
16 | g.89920112C= | CA2242009842 | MC1R | c.854C= (p.Ala285=) | |
16 | g.89920112C>G | CA8255777 | MC1R | c.854C>G (p.Ala285Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920112C>T | CA397463517 | MC1R | c.854C>T (p.Ala285Val) | |
16 | g.89920114del | CA624455326 | MC1R | c.856del (p.Leu286SerfsTer28) | gnomAD v2 gnomAD v4 |
16 | g.89920115_89920142del | CA624455327 | MC1R | c.857_884del (p.Leu286ProfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920113C>A | CA497380512 | MC1R | c.855C>A (p.Ala285=) | |
16 | g.89920113C= | CA2242009843 | MC1R | c.855C= (p.Ala285=) | |
16 | g.89920113C>G | CA497380514 | MC1R | c.855C>G (p.Ala285=) | |
16 | g.89920113C>T | CA8255778 | MC1R | c.855C>T (p.Ala285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920114C>A | CA397463519 | MC1R | c.856C>A (p.Leu286Ile) | |
16 | g.89920114C= | CA2242009845 | MC1R | c.856C= (p.Leu286=) | |
16 | g.89920114C>G | CA397463520 | MC1R | c.856C>G (p.Leu286Val) | dbSNP gnomAD v4 |
16 | g.89920114C>T | CA286607695 | MC1R | c.856C>T (p.Leu286Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920114_89920117delinsCTCA | CA2242009844 | MC1R | c.856_859delinsCTCA (p.Leu286=) | |
16 | g.89920115T>A | CA397463523 | MC1R | c.857T>A (p.Leu286His) | |
16 | g.89920115T>C | CA397463530 | MC1R | c.857T>C (p.Leu286Pro) | |
16 | g.89920115T>G | CA397463526 | MC1R | c.857T>G (p.Leu286Arg) | |
16 | g.89920120_89920122del | CA8255779 | MC1R | c.862_864del (p.Ile288del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920116C>A | CA497380527 | MC1R | c.858C>A (p.Leu286=) | |
16 | g.89920116C>G | CA497380529 | MC1R | c.858C>G (p.Leu286=) | gnomAD v4 |
16 | g.89920116C>T | CA497380530 | MC1R | c.858C>T (p.Leu286=) | gnomAD v4 |
16 | g.89920117A= | CA2242009846 | MC1R | c.859A= (p.Ile287=) | |
16 | g.89920117A>C | CA397463535 | MC1R | c.859A>C (p.Ile287Leu) | |
16 | g.89920117A>G | CA8255780 | MC1R | c.859A>G (p.Ile287Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920117A>T | CA397463539 | MC1R | c.859A>T (p.Ile287Phe) | |
16 | g.89920118T>A | CA397463541 | MC1R | c.860T>A (p.Ile287Asn) | |
16 | g.89920118T>C | CA397463544 | MC1R | c.860T>C (p.Ile287Thr) | |
16 | g.89920118T>G | CA8255781 | MC1R | c.860T>G (p.Ile287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920118T= | CA2242009847 | MC1R | c.860T= (p.Ile287=) | |
16 | g.89920118_89920119delinsTC | CA2242009848 | MC1R | c.860_861delinsTC (p.Ile287=) | |
16 | g.89920119del | CA725762519 | MC1R | c.861del (p.Ile288SerfsTer26) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920119C>A | CA8255783 | MC1R | c.861C>A (p.Ile287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920119C= | CA2242009849 | MC1R | c.861C= (p.Ile287=) | |
16 | g.89920119C>G | CA8255782 | MC1R | c.861C>G (p.Ile287Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920119C>T | CA16615058 | MC1R | c.861C>T (p.Ile287=) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.89920120A= | CA2242009850 | MC1R | c.862A= (p.Ile288=) | |
16 | g.89920120A>C | CA397463548 | MC1R | c.862A>C (p.Ile288Leu) | |
16 | g.89920120A>G | CA397463550 | MC1R | c.862A>G (p.Ile288Val) | ClinVar dbSNP |
16 | g.89920120A>T | CA397463560 | MC1R | c.862A>T (p.Ile288Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920121T>A | CA397463563 | MC1R | c.863T>A (p.Ile288Asn) | |
16 | g.89920121T>C | CA397463564 | MC1R | c.863T>C (p.Ile288Thr) | |
16 | g.89920121T>G | CA397463572 | MC1R | c.863T>G (p.Ile288Ser) | |
16 | g.89920122C>A | CA497380553 | MC1R | c.864C>A (p.Ile288=) | |
16 | g.89920122C= | CA2242009851 | MC1R | c.864C= (p.Ile288=) | |
16 | g.89920122C>G | CA397463581 | MC1R | c.864C>G (p.Ile288Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920122C>T | CA286607702 | MC1R | c.864C>T (p.Ile288=) | dbSNP gnomAD v4 |
16 | g.89920123T>A | CA397463591 | MC1R | c.865T>A (p.Cys289Ser) | |
16 | g.89920123T>C | CA8255784 | MC1R | c.865T>C (p.Cys289Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920123T>G | CA397463587 | MC1R | c.865T>G (p.Cys289Gly) | |
16 | g.89920123T= | CA2242009852 | MC1R | c.865T= (p.Cys289=) | |
16 | g.89920124G>A | CA397463598 | MC1R | c.866G>A (p.Cys289Tyr) | |
16 | g.89920124G>C | CA397463599 | MC1R | c.866G>C (p.Cys289Ser) | gnomAD v4 |
16 | g.89920124G>T | CA397463600 | MC1R | c.866G>T (p.Cys289Phe) | gnomAD v4 |
16 | g.89920125C>A | CA397463603 | MC1R | c.867C>A (p.Cys289Ter) | |
16 | g.89920125C= | CA2242009853 | MC1R | c.867C= (p.Cys289=) | |
16 | g.89920125C>G | CA397463604 | MC1R | c.867C>G (p.Cys289Trp) | |
16 | g.89920125C>T | CA8255785 | MC1R | c.867C>T (p.Cys289=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920126A>C | CA397463609 | MC1R | c.868A>C (p.Asn290His) | |
16 | g.89920126A>G | CA397463606 | MC1R | c.868A>G (p.Asn290Asp) | |
16 | g.89920126A>T | CA397463608 | MC1R | c.868A>T (p.Asn290Tyr) | ClinVar |
16 | g.89920127A= | CA2242009854 | MC1R | c.869A= (p.Asn290=) | |
16 | g.89920127A>C | CA397463611 | MC1R | c.869A>C (p.Asn290Thr) | |
16 | g.89920127A>G | CA8255786 | MC1R | c.869A>G (p.Asn290Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920127A>T | CA397463615 | MC1R | c.869A>T (p.Asn290Ile) | |
16 | g.89920128T>A | CA397463617 | MC1R | c.870T>A (p.Asn290Lys) | |
16 | g.89920128T>C | CA497380565 | MC1R | c.870T>C (p.Asn290=) | gnomAD v4 |
16 | g.89920128T>G | CA397463620 | MC1R | c.870T>G (p.Asn290Lys) | |
16 | g.89920129G>A | CA397463625 | MC1R | c.871G>A (p.Ala291Thr) | dbSNP |
16 | g.89920129G>C | CA397463628 | MC1R | c.871G>C (p.Ala291Pro) | |
16 | g.89920129G= | CA2242009855 | MC1R | c.871G= (p.Ala291=) | |
16 | g.89920129G>T | CA397463627 | MC1R | c.871G>T (p.Ala291Ser) | |
16 | g.89920130C>A | CA8255787 | MC1R | c.872C>A (p.Ala291Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920130C= | CA2242009857 | MC1R | c.872C= (p.Ala291=) | |
16 | g.89920130C>G | CA397463633 | MC1R | c.872C>G (p.Ala291Gly) | |
16 | g.89920130C>T | CA397463635 | MC1R | c.872C>T (p.Ala291Val) | |
16 | g.89920130_89920133delinsCCAT | CA2242009856 | MC1R | c.872_875delinsCCAT (p.Ala291=) | |
16 | g.89920130_89920134del | CA2539166074 | MC1R | c.872_876del (p.Ala291AspfsTer?) | gnomAD v4 |
16 | g.89920131C>A | CA497380575 | MC1R | c.873C>A (p.Ala291=) | |
16 | g.89920131C= | CA2242009858 | MC1R | c.873C= (p.Ala291=) | |
16 | g.89920131C>G | CA497380577 | MC1R | c.873C>G (p.Ala291=) | |
16 | g.89920131C>T | CA8255789 | MC1R | c.873C>T (p.Ala291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920135_89920137del | CA8255788 | MC1R | c.877_879del (p.Ile293del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920132A= | CA2242009859 | MC1R | c.874A= (p.Ile292=) | |
16 | g.89920132A>C | CA397463642 | MC1R | c.874A>C (p.Ile292Leu) | |
16 | g.89920132A>G | CA286607708 | MC1R | c.874A>G (p.Ile292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920132A>T | CA397463643 | MC1R | c.874A>T (p.Ile292Phe) | |
16 | g.89920133T>A | CA397463644 | MC1R | c.875T>A (p.Ile292Asn) | |
16 | g.89920133T>C | CA8255790 | MC1R | c.875T>C (p.Ile292Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920133T>G | CA397463646 | MC1R | c.875T>G (p.Ile292Ser) | |
16 | g.89920133T= | CA2242009860 | MC1R | c.875T= (p.Ile292=) | |
16 | g.89920134C>A | CA497380587 | MC1R | c.876C>A (p.Ile292=) | |
16 | g.89920134C>G | CA397463650 | MC1R | c.876C>G (p.Ile292Met) | |
16 | g.89920134C>T | CA497380585 | MC1R | c.876C>T (p.Ile292=) | gnomAD v4 |
16 | g.89920135A>C | CA397463658 | MC1R | c.877A>C (p.Ile293Leu) | |
16 | g.89920135A>G | CA397463653 | MC1R | c.877A>G (p.Ile293Val) | |
16 | g.89920135A>T | CA397463656 | MC1R | c.877A>T (p.Ile293Phe) | |
16 | g.89920136T>A | CA397463661 | MC1R | c.878T>A (p.Ile293Asn) | |
16 | g.89920136T>C | CA397463662 | MC1R | c.878T>C (p.Ile293Thr) | gnomAD v4 |
16 | g.89920136T>G | CA397463663 | MC1R | c.878T>G (p.Ile293Ser) | |
16 | g.89920136_89920137insACGG | CA980471612 | MC1R | c.878_879insACGG (p.Asp294ArgfsTer?) | gnomAD v3 gnomAD v4 |
16 | g.89920137C>A | CA497380591 | MC1R | c.879C>A (p.Ile293=) | |
16 | g.89920137C= | CA2242009861 | MC1R | c.879C= (p.Ile293=) | |
16 | g.89920137C>G | CA397463664 | MC1R | c.879C>G (p.Ile293Met) | |
16 | g.89920137C>T | CA8255791 | MC1R | c.879C>T (p.Ile293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920138G>A | CA8255792 | MC1R | c.880G>A (p.Asp294Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920138G>C | CA123861 | MC1R | c.880G>C (p.Asp294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920138G= | CA2242009862 | MC1R | c.880G= (p.Asp294=) | |
16 | g.89920138G>T | CA397463671 | MC1R | c.880G>T (p.Asp294Tyr) | ClinVar |
16 | g.89920139A= | CA2242009863 | MC1R | c.881A= (p.Asp294=) | |
16 | g.89920139A>C | CA397463673 | MC1R | c.881A>C (p.Asp294Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920139A>G | CA397463681 | MC1R | c.881A>G (p.Asp294Gly) | |
16 | g.89920139A>T | CA397463682 | MC1R | c.881A>T (p.Asp294Val) | gnomAD v4 |
16 | g.89920139_89920140delinsAC | CA2242009864 | MC1R | c.881_882delinsAC (p.Asp294=) | |
16 | g.89920140C>A | CA397463692 | MC1R | c.882C>A (p.Asp294Glu) | |
16 | g.89920140C= | CA2242009866 | MC1R | c.882C= (p.Asp294=) | |
16 | g.89920140C>G | CA397463687 | MC1R | c.882C>G (p.Asp294Glu) | |
16 | g.89920140C>T | CA8255793 | MC1R | c.882C>T (p.Asp294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920144del | CA2242009865 | MC1R | c.886del (p.Leu296SerfsTer18) | dbSNP |
16 | g.89920141C>A | CA397463694 | MC1R | c.883C>A (p.Pro295Thr) | |
16 | g.89920141C= | CA2242009867 | MC1R | c.883C= (p.Pro295=) | |
16 | g.89920141C>G | CA397463697 | MC1R | c.883C>G (p.Pro295Ala) | ClinVar dbSNP |
16 | g.89920141C>T | CA286607714 | MC1R | c.883C>T (p.Pro295Ser) | ClinVar dbSNP gnomAD v4 |